Ray of hope: Many rare diseases send affected families sourcing for basic research funding from the general public.

The amytrophic lateral sclerosis (ALS) ‘ice bucket challenge’ has taken the world by storm since its launch in 2014. Various social media platforms were flooded with videos of the ‘challenge’, where people pour freezing water on their heads – an act to clearly show what people who have the disease live with and go through. Very soon after, funds and awareness were raised to aid in the research of ALS or Lou Gehrig’s disease.

The ALS patient that sparked this fundraising movement, Pete Frates, has recently been hospitalised and his contributions towards ALS have generated appreciative tweets during this time. Thus far, the efforts have raised USD115 million for the Amyotrophic Lateral Sclerosis (ALS) Association, aside from millions more for other ALS charities.

Where has all the money gone?

Two-thirds of the haul – USD77 million – was used for genetic research. Recently, scientists discovered a variant of a gene, NEK1, is linked to 3% of ALS cases and could be a potential treatment target. Further research is being done to study how this gene affects progression of the debilitating disease, and other genes linked to ALS are also being traced with million dollar grants.

The ALS Association used USD23 million – one-fifth of the money raised – to support patients and their communities. Patients were given grants for increased sessions with speech pathologists and iPads to aid in communication. In addition, some patients received grants for handicapped ramps, stairlifts. Families and caregivers benefitted by attaining free training and grief counselling.

A part of the funds went to fuelling the hunt for biomarkers for ALS. Some scientists got USD1 million in efforts to track the TDP-43 protein found in almost all ALS cases. One researcher in the United States was granted USD2 million to identify inflammatory biomarkers linked to the disease. That researcher received USD400,000 additionally to develop a nanoparticle for magnetic resonance imaging that has biomarker potential.

Tech research was funded with the aim to benefit current patients. In December 2016, two research groups were given a USD400,000 prize – Dutch researchers producing an interface to allow ALS patients to communicate via selective attention and an American company that is developing a system to aid patients in controlling their phones, laptops and home robotics.

Besides that, the ALS Association has also invested in human trials to investigate promising compounds. An American researcher aiming to send DNA molecules to the central nervous system with transport viruses received USD2.5million. Also, a biotech company, miRagen Therapeutics, is attempting to move forward a compound targeting neuroinflammation with a USD400,000 grant.

Inspired families raising funds for other causes

A toddler, Purnell, diagnosed with Niemann-Pick type A is at the centre of a crowdfunding campaign run by his parents – the Sabkys. Having raised more than USD600,000 in over a month, they aim to speed production of an experimental gene therapy that could treat their son. Biopharma companies take interest in rare diseases as they can charge premium prices upon developing a therapy. However, they want to see promising early-stage results prior to investing in a field. Hence, families like the Sabkys turn to the internet to raise funds for basic university and hospital research.

Steven Laffoon, who runs the Wylder Nation Foundation, a non-profit that researches Niemann-Pick remarked that “It seems the rare diseases space is a lucrative, pretty sexy space for companies. But there’s still too much risk, in our opinion, for a company to just jump in.”

Dr Elliott Sherr, a paediatric neurologist at the University of California added, “The key thing about the families is, they can give you funds early, before [the National Institutes of Health] would be ready to give you that additional funding.” He also stressed on awareness being better than funding. For instance, in two years, family activism has brought forward over 60 patients with a rare genetic mutation, DDX3X. He explained that this large pool of patients for trials “accelerates the research process”.

The Sabkys took to GoFundMe after they were essentially left with a “death sentence”. They collaborated with the Wylder Nation Foundation and used a strategic approach in terms of how and when to put out social media posts. The funds raised are to research the development of a viral vector to deliver gene therapy in patients.

Similar crowdfunding efforts were undertaken by the parents of Eliza O’Neill who raised over USD4 million to speed up research for Sanfilippo syndrome – another lysosomal storage disorder. This helped Eliza get access to an experimental gene therapy from a biotech company.

Besides that, Leena and Anil Panwala, also gathered more than USD150,000 to support research for their daughter, Ariya, who was diagnosed with infantile neuroaxonal dystrophy (INAD). They refuse to leave it up to pharmaceutical companies or federal grant reviewers to establish which research receives funding.

“That’s our biggest motivation for starting our foundation and raising the money: We’re making sure the control comes from families affected by INAD. It allows us to get more and more scientists researching this particular mutation—and get more accountability from the researchers,” Leena expressed. MIMS